[WoHIT] Use of various types of genetic tests in clinical practice set to be a major innovation

By April 10, 2014
discrete genetic data

In order to give patients the most appropriate care, personalised medicine needs to take into account a wide variety of genetic information.

Interview with Mark Hoffman, Director of the Center for Health Insights at the University of Missouri – Kansas City, who specialises in bacteriology and personalised medicine, following his lecture entitled ‘Big Data, Little Data and Personalised Medicine’ during the World of Health (WoHIT 2014) conference which took place in the French city of Nice on 2-4 April.

L’Atelier: What does ‘personalised medicine’ actually mean today in 2014?

Mark Hoffman: When we use this term we’re usually talking about advanced biological testing such as genomics or proteomics (Editor’s note: study of proteins, particularly their structures and functions in cells and tissue). Personalised medicine basically means using as much information as possible on a patient in order to take the best clinical decision. The aim is to provide the patient with the most appropriate treatment, in accordance with his/her precise genetic information.

During your presentation, you spoke about ‘discrete genetic data’. Could you tell us a bit more about that?

Well, the alternative to discrete genetic data is the approach that’s in current use – a number of written reports and scanned documents, i.e. formats which cannot be read by machines. Discrete genetic test results are stored electronically in a single file. The Electronic Health Record (EHR) pulls these different types of discrete genetic test results together, which should be much more useful for practitioners. As Vice-President at Cerner, I approved an initiative to develop an information system for the laboratory which would generate discrete genetic test results. And this system is now being used in more than 25 genetic testing laboratories worldwide.

What type of innovations regarding data do you think will emerge?

The most important innovation will be the use of these various types of genetic tests in clinical practice. We need results which prove how useful these tests are in a clinical situation. And when that happens, the use of the tests will grow and the demand for them from technology platforms will increase.

Do you think that there are confidentiality issues around genetic data?  

Well, digital systems protect patient confidentiality better than paper medical files. Access to them can be managed in a far more secure way. So I don’t think there are any real issues around the confidentiality of genetic data in patients’ electronic clinical files. There might perhaps be an exception where the impact of the results of genetic tests goes beyond the individual patient’s situation. When you learn something about yourself, you realise all the effects this has or might have on those around you – your wife, your brother, your aunt, and so on.


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